Linked Data
ClinVar Variation Id:
93336
dbSNP Id:
rs398123486
gnomAD v3:
19-41423039-G-A
gnomAD v4:
19-41423039-G-A
COSMIC:
COSM6003641
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41423039G>A , CM000681.2:g.41423039G>A | GRCh38 |
| NC_000019.9:g.41928944G>A , CM000681.1:g.41928944G>A | GRCh37 |
| NC_000019.8:g.46620784G>A | NCBI36 |
| NG_013004.1:g.30251G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1037G>A MANE Select | ENSP00000269980.2:p.Arg346His | |
| ENST00000269980.6:c.1037G>A | ENSP00000269980.2:p.Arg346His | |
| ENST00000457836.6:c.1046G>A | ENSP00000416000.2:p.Arg349His | |
| ENST00000540732.3:c.1139G>A | ENSP00000443246.1:p.Arg380His | |
| ENST00000542943.5:c.950G>A | ENSP00000440345.1:p.Arg317His | |
| ENST00000595085.5:c.922+342G>A | ENSP00000471150.2:n.922+342G>A | |
| NM_000709.3:c.1037G>A | NP_000700.1:p.Arg346His | |
| NM_001164783.1:c.1034G>A | NP_001158255.1:p.Arg345His | |
| NM_000709.4:c.1037G>A MANE Select | NP_000700.1:p.Arg346His | |
| NM_001164783.2:c.1034G>A | NP_001158255.1:p.Arg345His |